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Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare genetic condition characterized by the progressive weakness and spasticity of the muscles, primarily in the legs. This disorder is also known as hereditary spastic paraplegia type 2 (SPG2) or ALS2-related disorders, as it is caused by variations in the ALS2 gene.

The ALS2 gene encodes alsin, a protein involved in the function of GTPases. Mutations in this gene disrupt normal GTPase activity, leading to the degeneration of upper and lower motor neurons. As a result, individuals with IAHSP experience weakness and spasticity that begins in early infancy and gradually becomes more severe over time.

IAHSP is inherited in an autosomal recessive pattern, meaning that individuals must inherit two mutated copies of the ALS2 gene to develop the condition. The characteristic feature of IAHSP is the ascending nature of the paralysis, with symptoms starting in the lower limbs and progressing upwards to the trunk and upper limbs.

There is currently no cure for IAHSP, and treatment focuses on managing symptoms and improving quality of life. Physical therapy, orthotic devices, and assistive devices are often used to support mobility and reduce spasticity. Ongoing research and clinical trials are investigating potential treatments and therapies for IAHSP.

For more information about infantile-onset ascending hereditary spastic paralysis, including additional scientific articles, resources, and support groups, refer to the OMIM and PubMed databases. These resources provide comprehensive information on the genetics, causes, and clinical characteristics of this rare condition.

Frequency

Infantile-onset ascending hereditary spastic paralysis (IAHSP), also known as infantile spastic paraplegia or spastic paraplegia type 2 (SPG2), is a rare genetic condition characterized by the progressive weakness and spasticity of the leg muscles. It is caused by mutations in the ALS2 gene, which is involved in the regulation of GTPases.

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The frequency of IAHSP is not well established, as it is a rare condition. However, research and studies suggest that it is an uncommon form of hereditary spastic paraplegia. The exact prevalence of IAHSP in the general population is unknown.

Infantile-onset ascending hereditary spastic paralysis follows an autosomal recessive pattern of inheritance, meaning that both copies of the ALS2 gene must be mutated for the condition to develop. Individuals who inherit only one mutated copy of the gene are generally unaffected carriers.

To learn more about the frequency and characteristics of IAHSP, additional information can be found through various resources, such as scientific articles, genetic databases like OMIM, and patient advocacy organizations like the International Advocacy for Hereditary Spastic Paraplegia (IAHSP) Center. These resources provide valuable information about IAHSP and other related genetic disorders.

For more information about genetic testing, clinical trials, and support for individuals with IAHSP or their families, references can be found on websites like ClinicalTrials.gov. These resources offer information about ongoing research studies, available testing options, and support groups in specific areas.

It is important to note that the frequency and characteristics of IAHSP may vary among different populations and regions. Further research and studies are needed to fully understand the prevalence and impact of this rare condition.

Causes

Infantile-onset ascending hereditary spastic paralysis, also known as GTPase regulator-interacting protein 1 (GIGYF1) gene-related spastic paraplegia (IAHSP), is a rare hereditary condition that is primarily caused by a genetic mutation in the ALS2 gene. This condition is associated with progressive weakness and stiffness in the lower limbs, leading to difficulty in walking and other motor functions.

Genetic studies have identified various mutations in the ALS2 gene as the primary cause of infantile-onset ascending hereditary spastic paralysis. These mutations affect the function of the alsin protein, which is crucial for the development and maintenance of motor neurons. Mutations in the ALS2 gene impair the normal functioning of alsin protein, leading to the degeneration of motor neurons in specific areas of the body.

The exact mechanism by which ALS2 gene mutations cause motor neuron degeneration is still not fully understood. However, research suggests that the loss of alsin protein function may disrupt normal cellular processes, including protein trafficking and motor neuron development, ultimately leading to the characteristic spasticity and muscle weakness observed in infantile-onset ascending hereditary spastic paralysis.

Infantile-onset ascending hereditary spastic paralysis is inherited in an autosomal recessive pattern, meaning that affected individuals inherit two copies of the mutated ALS2 gene, one from each parent, who are usually unaffected carriers of the condition.

Additional information about the genetic cause of infantile-onset ascending hereditary spastic paralysis can be found in scientific articles and resources such as OMIM and PubMed. Genetic testing is available to confirm the diagnosis of IAHSP and identify the specific ALS2 gene mutations present in the patient.

It is important to note that infantile-onset ascending hereditary spastic paralysis should not be confused with other diseases or disorders that present with similar symptoms of spastic paraplegia. Some other names used to describe hereditary spastic paraplegias include pure spastic paraplegia, hereditary spastic paraplegia, and spasticity/spastic paraplegia.

Patients and their families can seek support and learn more about infantile-onset ascending hereditary spastic paralysis through advocacy groups and organizations dedicated to rare genetic diseases. ClinicalTrials.gov provides information on ongoing research studies and clinical trials related to IAHSP and other forms of hereditary spastic paraplegia.

Learn more about the gene associated with Infantile-onset ascending hereditary spastic paralysis

Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare genetic condition characterized by progressive spasticity and weakness of the muscles in the legs. It is also known as pure spastic paraplegia type 4 and is one of the many types of hereditary spastic paraplegias.

See also  Leber congenital amaurosis

The exact cause of IAHSP is not yet fully understood. However, studies have identified a gene called ALS2 as the most common cause of the condition. Mutations in the ALS2 gene disrupt the normal functioning of motor neurons, leading to the characteristic spasticity and weakness seen in IAHSP patients.

If you want to learn more about the gene associated with IAHSP, there are several resources available. Here are some recommended sources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about the ALS2 gene, including its location, function, and associated diseases. You can access it at https://www.omim.org/ and search for “ALS2”.
  • PubMed: PubMed is a valuable resource for scientific research articles. Search for “ALS2 gene” or “infantile-onset ascending hereditary spastic paralysis” to find relevant studies and publications on the topic.
  • ClinicalTrials.gov: This website provides information on ongoing clinical trials and research studies related to genetic disorders. You can search for “ALS2 gene” or “infantile-onset ascending hereditary spastic paralysis” to find any studies that may be currently recruiting or have completed.
  • Advocacy and support center: There are various advocacy and support centers that specialize in rare genetic conditions and can provide additional information and resources. Contact them to learn more about IAHSP and the ALS2 gene.

Learning more about the gene associated with IAHSP can help improve our understanding of the condition and may lead to better treatments and interventions for affected individuals.

Inheritance

Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare genetic condition characterized by the early onset of paraplegia, a condition that causes spasticity in the muscles of the legs. The inheritance pattern of IAHSP is autosomal recessive, meaning that the condition is caused by mutations in both copies of the gene associated with the condition.

To date, several genes have been found to be associated with IAHSP, including ALS2, which encodes the protein alsin. Mutations in the ALS2 gene are the most common cause of IAHSP, accounting for up to 75% of cases. Additionally, other genetic mutations in genes such as SPG11, KIF5A, and CYP7B1 have also been linked to the disease.

Inheritance of IAHSP follows a characteristic pattern. Both parents of an affected individual are carriers of a single mutated gene, but do not show symptoms of the condition themselves. When two carriers have children together, there is a 25% chance with each pregnancy that the child will inherit both mutated genes and develop IAHSP, a 50% chance that the child will be a carrier like the parents, and a 25% chance that the child will not inherit any mutated genes and will not have the condition.

The frequency of IAHSP varies among different populations, with some specific populations showing higher incidence rates. It is estimated that the frequency of IAHSP ranges from 1 in 87,000 to 1 in 380,000 individuals worldwide.

To learn more about the genetic causes of IAHSP and associated conditions, there are several scientific resources and advocacy organizations available. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genes associated with IAHSP and other genetic disorders. Additionally, the Genetic Testing Registry and PubMed provide articles and research studies on IAHSP and related topics.

If you or a family member has been diagnosed with IAHSP, it is important to seek support and information from organizations such as the Spastic Paraplegia Foundation, which provides resources and support for individuals affected by the condition. ClinicalTrials.gov also offers information on ongoing clinical trials and research studies related to IAHSP.

Other Names for This Condition

This condition is also known by other names, such as:

  • Infantile-onset ascending hereditary spastic paralysis
  • IAHSP
  • Alsin-related disorders
  • ALS2-related disorders
  • Pure spastic paraplegia type 2

These different names reflect the various aspects and characteristics of the condition. Some of the terms emphasize the clinical features, such as infantile-onset and ascending paralysis, while others highlight the genetic basis, such as ALS2-related disorders. It is important to be familiar with these names as they may appear in various references, articles, studies, and resources related to the condition.

If you would like to learn more about this condition, its causes, inheritance patterns, frequency, and associated genes, you can find additional information from scientific databases and genetic resources such as OMIM (Online Mendelian Inheritance in Man), GeneReviews, and ClinicalTrials.gov. These resources provide comprehensive information about the condition, including patient advocacy and support areas, research studies, clinical trials, and genetic testing options.

Additional Information Resources

For more information about Infantile-onset ascending hereditary spastic paralysis (IAHSP) and related conditions, the following resources may be helpful:

  • OMIM (Online Mendelian Inheritance in Man): an online catalog of human genes and genetic disorders. OMIM provides detailed information on ALS2 and other associated genes and conditions. Visit www.omim.org for more information.
  • PubMed: a database of scientific articles and studies. PubMed contains numerous articles on the causes, inheritance, clinical characteristics, and treatment of IAHSP and related disorders. To access PubMed, visit pubmed.ncbi.nlm.nih.gov.
  • Genetic Testing Registry: a resource provided by the National Center for Biotechnology Information (NCBI). The Genetic Testing Registry offers information on testing methods, frequency, and areas of testing for various genetic conditions. To learn more, visit www.ncbi.nlm.nih.gov/gtr.
  • Spastic Paraplegia Foundation: a patient advocacy and support organization for individuals and families affected by hereditary spastic paraplegias (HSP). The foundation provides resources, educational materials, and support networks. For additional information, visit sp-foundation.org.
  • ClinicalTrials.gov: a database of publicly and privately supported clinical studies. ClinicalTrials.gov lists ongoing and completed studies related to IAHSP and other rare diseases. To explore current research opportunities, visit clinicaltrials.gov.

Genetic Testing Information

Genetic testing is a valuable tool used to diagnose genetic diseases, including Infantile-onset Ascending Hereditary Spastic Paralysis (IAHSP). It involves analyzing a person’s DNA to identify genetic variations that may be responsible for causing the disease.

Understanding the genetic basis of IAHSP is crucial for accurate diagnosis and appropriate management of the condition. Genetic testing can provide valuable information about the frequency, types, and inheritance patterns of genetic mutations associated with IAHSP.

See also  Proximal 18q deletion syndrome

There are several genes known to be associated with IAHSP, including the ALSIN (ALS2) gene. Mutations in the ALSIN gene are the most common cause of the pure form of IAHSP.

Genetic testing for IAHSP usually involves targeted sequencing or next-generation sequencing techniques to identify mutations in specific genes. These tests can be performed through specialized genetic testing laboratories or genetic testing centers.

Why is genetic testing important for IAHSP?

  • It helps in confirming the diagnosis of IAHSP and ruling out other conditions with similar clinical features.
  • It enables precise genetic counseling to understand the inheritance pattern of IAHSP and the risk of passing it on to future generations.
  • It allows for early identification of at-risk individuals, leading to early interventions and better management of the condition.
  • It facilitates research studies on the genetic causes and mechanisms of IAHSP, leading to a better understanding of the disease and potential targeted treatments.

Resources for Genetic Testing Information

For more information on genetic testing for IAHSP, the following resources can be helpful:

  1. Online articles and scientific publications: Websites like OMIM (Online Mendelian Inheritance in Man) and PubMed provide scientific articles and research studies on IAHSP and related genetic disorders.
  2. Genetic testing centers: Many specialized genetic testing centers offer information on genetic tests available for IAHSP and can assist in the testing process.
  3. Support and advocacy organizations: Patient advocacy groups and organizations dedicated to genetic diseases often provide resources and support for individuals and families affected by IAHSP.

It is important to consult with healthcare professionals and genetic counselors to learn more about genetic testing options, available resources, and the best approach for managing IAHSP.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a comprehensive resource providing information on various genetic and rare diseases. This center offers support for patients, families, and healthcare professionals seeking information on these conditions.

Through the center’s website, users can access a wide range of resources, including articles, references, and scientific information on different diseases. The center covers areas such as causes, symptoms, inheritance patterns, and available treatments for various conditions.

For individuals interested in learning more about specific rare diseases, the center provides links to additional resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed articles, and patient advocacy groups.

One rare disease covered by the center is Infantile-onset Ascending Hereditary Spastic Paralysis (IAHSP), also known as Alsin-related Motor Neuron Disease (ALS2). IAHSP is a genetic condition characterized by progressive muscle weakness and spasticity.

The cause of IAHSP is associated with mutations in the ALS2 gene. The ALS2 gene provides instructions for producing a protein called alsin, which is involved in the functioning of nerve cells. Mutations in this gene can lead to the degeneration of motor neurons, resulting in the characteristic symptoms of IAHSP.

Currently, there is no cure for IAHSP. Treatment focuses on managing symptoms, such as spasticity, through physical therapy and medications. Supportive care is also provided to improve the quality of life for individuals with IAHSP.

For individuals and families affected by IAHSP or other rare diseases, the center provides information on ongoing research and clinical trials that may offer potential treatment options. ClinicalTrials.gov is a valuable resource for finding information about current studies and trials for specific diseases.

In conclusion, the Genetic and Rare Diseases Information Center offers a comprehensive collection of resources and support for individuals seeking information on genetic and rare diseases. Whether you are a patient, family member, or healthcare professional, this center provides valuable information to better understand and navigate these conditions.

Patient Support and Advocacy Resources

When dealing with a rare and genetic condition like Infantile-onset ascending hereditary spastic paralysis (IAHSP), it is important for patients and their families to have access to comprehensive support and advocacy resources. These resources can provide valuable information, support, and guidance throughout the journey with IAHSP.

Here are some patient support and advocacy resources that can help:

  • Hereditary Spastic Paraplegia (HSP) Resource Center: This resource center offers a catalog of information about hereditary spastic paraplegia, including articles, scientific research, and support groups. It provides comprehensive information on the genetic causes, associated conditions, and available resources for HSP.
  • Genetic Testing: Genetic testing can provide valuable information about the specific gene mutation causing IAHSP in an individual. Patients and their families can consult genetic testing centers to learn more about the testing process, its benefits, and how to access it.
  • Patient Advocacy Organizations: There are patient advocacy organizations dedicated to supporting individuals with rare conditions like IAHSP. These organizations work towards raising awareness, providing support networks, and advocating for improved research and treatment options.
  • Online Communities: Online communities, forums, and support groups can connect patients and their families with others who are going through similar challenges. These communities offer a platform for sharing experiences, seeking advice, and finding emotional support.
  • Research Studies and Clinical Trials: Research studies and clinical trials focused on IAHSP and related conditions can provide patients with an opportunity to contribute to scientific advancements and access potential treatment options. Websites like PubMed and ClinicalTrials.gov are valuable resources to find information about ongoing studies.

It is important to note that IAHSP is a rare condition, and therefore, patient support and advocacy resources may be limited compared to more prevalent conditions. However, by exploring these resources and connecting with the available support networks, patients and their families can gain knowledge, find comfort, and stay up-to-date with the latest developments in the field of IAHSP.

References:

  1. “Infantile-onset ascending hereditary spastic paralysis.” Online Mendelian Inheritance in Man (OMIM). Accessed [insert date]. Available at: [insert OMIM website link].
  2. [Additional references about IAHSP and related topics can be included here.]

Research Studies from ClinicalTrials.gov

Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare genetic condition characterized by progressive muscle weakness and spasticity. It is caused by mutations in the ALS2 gene, which encodes a protein called alsin. This condition is also known as autosomal recessive spastic paraplegia type 2 (SPG2).

See also  GCDH gene

Research studies from ClinicalTrials.gov provide valuable resources and information on various aspects of IAHSP. These studies aim to understand the genetic causes, inheritance patterns, and associated conditions of IAHSP. They also focus on identifying potential treatments and improving patient care.

Some of the research studies from ClinicalTrials.gov focus on the following areas:

  1. Genetic causes and inheritance patterns of IAHSP
  2. Characteristics and frequency of IAHSP in different populations
  3. Associated conditions and diseases with IAHSP
  4. Advocacy and support resources for patients and their families
  5. Testing and diagnostic methods for IAHSP

One of the primary goals of these research studies is to learn more about the ALS2 gene and its role in causing IAHSP. By understanding the underlying genetic mechanisms, scientists hope to develop targeted therapies and interventions that can alleviate the symptoms and slow the progression of the condition.

In addition to ClinicalTrials.gov, other sources of information on IAHSP include the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed articles. These resources provide scientific articles and references that further contribute to the understanding of this rare genetic disorder.

Overall, the research studies from ClinicalTrials.gov play a crucial role in advancing our knowledge of infantile-onset ascending hereditary spastic paralysis. They provide valuable information about the genetic causes, associated conditions, and potential treatments for this condition. Patients, caregivers, and healthcare providers can utilize these resources to learn more about IAHSP and access the latest research developments in the field.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive center for the collection and dissemination of information about genetic disorders. It serves as a valuable resource for scientific research in the areas of genetics and rare diseases.

OMIM provides information on various types of genetic conditions including infantile-onset ascending hereditary spastic paralysis (IAHSP), also known as ALS2-related disorders. IAHSP is characterized by progressive spasticity and paralysis of the muscles in the lower limbs.

OMIM catalogs genes associated with hereditary spastic paraplegia (HSP), which is a group of genetic disorders characterized by progressive spasticity and weakness of the lower limbs. The catalog provides information on the names of the genes, associated references, and additional resources for learning more about these conditions.

OMIM also offers a catalog of genes associated with other types of spastic paraplegias, as well as resources for testing and genetic counseling. This information can support patients, families, and healthcare professionals in understanding the causes, inheritance patterns, and frequency of these rare diseases.

For more information on specific genes and diseases, OMIM provides references to articles from PubMed and clinicaltrials.gov. These resources offer valuable insights into the research and clinical studies conducted in the field of genetics and spastic paraplegias.

OMIM’s catalog of genes and diseases also includes information on the ALS2 gene, which is associated with infantile-onset ascending hereditary spastic paralysis. The ALS2 gene encodes the protein alsin, which is involved in the regulation of GTPases. Mutations in the ALS2 gene can cause paralysis and muscle atrophy in patients with IAHSP.

Overall, OMIM provides a comprehensive catalog of genes and diseases, serving as a valuable resource for scientists, healthcare professionals, and advocacy organizations working in the field of genetics and rare diseases.

  • Center: Online Mendelian Inheritance in Man
  • Website: https://omim.org
  • Information on IAHSP: https://omim.org/entry/602433
  • Genes associated with HSP: https://omim.org/phenotypicSeries/PS303350
  • Resources for Genetic Testing: https://omim.org/entry/602433#testing
  • Publications on PubMed: https://omim.org/entry/602433#references
  • Clinical Trials on ClinicalTrials.gov: https://omim.org/entry/602433#clinicaltrials
OMIM Resources:

Scientific Articles on PubMed

Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare genetic condition characterized by spasticity and paralysis in the muscles of the lower limbs. It is caused by mutations in the ALS2 gene, which is responsible for encoding the alsin protein. Als2 is a guanine nucleotide exchange factor (GEF) that regulates the activity of small GTPases in various cellular processes.

Scientific articles on PubMed provide valuable information about this condition, including its clinical features, genetic inheritance, and available treatments. Researchers have conducted studies to understand the underlying causes of IAHSP and to develop effective therapies for patients.

These articles also discuss the frequency of IAHSP and its association with other types of hereditary spastic paraplegias (HSPs). They provide resources for genetic testing and support for patients and their families. The PubMed catalog contains references to various scientific articles related to IAHSP and related conditions, allowing researchers and healthcare professionals to stay up to date with the latest research in this field.

Some articles focus on the pure spastic paraplegia form of IAHSP, while others explore the additional features of the condition, such as muscle atrophy and associated diseases. Information about the ALS2 gene and its role in causing IAHSP is also available in these scientific articles.

Advocacy organizations and genetic centers provide additional information and support for individuals and families affected by IAHSP. They offer resources to help patients learn more about the condition, connect with other individuals with similar disorders, and find clinical trials and research studies for potential treatments.

In summary, scientific articles on PubMed provide a wealth of information about infantile-onset ascending hereditary spastic paralysis. They cover various aspects of the condition, including its clinical features, genetic inheritance, associated diseases, and available resources for patients and healthcare professionals. Researchers continue to conduct studies to further understand IAHSP and develop effective treatments for this rare genetic disorder.

References

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